Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients

Ashton C et al report a retrospective multi-centre cohort of 34 patients from Canada, France, Austria and Australia with spinocerebellar ataxia 27B, describing the common feature of episodic ataxia and other episodic features, as well as the inefficacy of acetazolamide in these patients.

Detalles Bibliográficos
Autores principales: Ashton, Catherine, Indelicato, Elisabetta, Pellerin, David, Clément, Guillemette, Danzi, Matt C, Dicaire, Marie-Josée, Bonnet, Céline, Houlden, Henry, Züchner, Stephan, Synofzik, Matthis, Lamont, Phillipa J, Renaud, Mathilde, Boesch, Sylvia, Brais, Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495284/
https://www.ncbi.nlm.nih.gov/pubmed/37705681
http://dx.doi.org/10.1093/braincomms/fcad239
_version_ 1785104860140535808
author Ashton, Catherine
Indelicato, Elisabetta
Pellerin, David
Clément, Guillemette
Danzi, Matt C
Dicaire, Marie-Josée
Bonnet, Céline
Houlden, Henry
Züchner, Stephan
Synofzik, Matthis
Lamont, Phillipa J
Renaud, Mathilde
Boesch, Sylvia
Brais, Bernard
author_facet Ashton, Catherine
Indelicato, Elisabetta
Pellerin, David
Clément, Guillemette
Danzi, Matt C
Dicaire, Marie-Josée
Bonnet, Céline
Houlden, Henry
Züchner, Stephan
Synofzik, Matthis
Lamont, Phillipa J
Renaud, Mathilde
Boesch, Sylvia
Brais, Bernard
author_sort Ashton, Catherine
collection PubMed
description Ashton C et al report a retrospective multi-centre cohort of 34 patients from Canada, France, Austria and Australia with spinocerebellar ataxia 27B, describing the common feature of episodic ataxia and other episodic features, as well as the inefficacy of acetazolamide in these patients.
format Online
Article
Text
id pubmed-10495284
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Oxford University Press
record_format MEDLINE/PubMed
spelling pubmed-104952842023-09-13 Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients Ashton, Catherine Indelicato, Elisabetta Pellerin, David Clément, Guillemette Danzi, Matt C Dicaire, Marie-Josée Bonnet, Céline Houlden, Henry Züchner, Stephan Synofzik, Matthis Lamont, Phillipa J Renaud, Mathilde Boesch, Sylvia Brais, Bernard Brain Commun Letter to the Editor Ashton C et al report a retrospective multi-centre cohort of 34 patients from Canada, France, Austria and Australia with spinocerebellar ataxia 27B, describing the common feature of episodic ataxia and other episodic features, as well as the inefficacy of acetazolamide in these patients. Oxford University Press 2023-09-10 /pmc/articles/PMC10495284/ /pubmed/37705681 http://dx.doi.org/10.1093/braincomms/fcad239 Text en © The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letter to the Editor
Ashton, Catherine
Indelicato, Elisabetta
Pellerin, David
Clément, Guillemette
Danzi, Matt C
Dicaire, Marie-Josée
Bonnet, Céline
Houlden, Henry
Züchner, Stephan
Synofzik, Matthis
Lamont, Phillipa J
Renaud, Mathilde
Boesch, Sylvia
Brais, Bernard
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
title Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
title_full Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
title_fullStr Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
title_full_unstemmed Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
title_short Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
title_sort spinocerebellar ataxia 27b: episodic symptoms and acetazolamide response in 34 patients
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495284/
https://www.ncbi.nlm.nih.gov/pubmed/37705681
http://dx.doi.org/10.1093/braincomms/fcad239
work_keys_str_mv AT ashtoncatherine spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT indelicatoelisabetta spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT pellerindavid spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT clementguillemette spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT danzimattc spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT dicairemariejosee spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT bonnetceline spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT houldenhenry spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT zuchnerstephan spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT synofzikmatthis spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT lamontphillipaj spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT renaudmathilde spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT boeschsylvia spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients
AT braisbernard spinocerebellarataxia27bepisodicsymptomsandacetazolamideresponsein34patients

Ejemplares similares